Gaucher disease is an autosomal recessive genetic metabolic disorder due to an inherited disorder of metabolism, resulting from glucocerebrosidase deficiency, resulting in the deposition of glucocerebroside and its components. The clinical symptoms are different depending on the type of the disease, but it is usually hepatosplenomegaly or damage to the central nervous system.Laboratory diagnosis can use routine analyzes such as ferritin, HDL, vitamin b12, folate, serum iron, but also specialized ones such as serum protein electrophoresis as well as immunofixation for the typing of immunoglobulins.Through this work, we will shed light on the interest of serum protein electrophoresis in the biological orientation of the biology diagnosis of Gaucher disease, and this through case illustrations.Confirmatory laboratory diagnosis is based on DNA analysis and / or enzymatic analysis of white blood cells, and by demonstrating a decrease in β-glucosidase activity...

Mitochondrial diseases, are the most frequent hereditary diseases of metabolism. They are characterized by a dysfunction of the respiratory chain, which results in an energy deficit.These are very heterogeneous diseases, with a very variable clinical presentation and often difficult diagnosis. They are due to the alteration of very diverse genes located either on mitochondrial DNA (mtDNA) or on the nuclear genome. Recent technological advances with exon sequencing have led to the discovery of many genes involved and to better understand the pathophysiological mechanisms of these diseases, which are essential for the development of specific treatments.The diagnostic approach consists in recognizing the disease in front of the clinical presentation, For clinical practice, the diagnostic approach of mitochondrial cytopathies would be more easy if the practitioner keeps in mind the most evocative clinical pictures and if he provides proof of the mitochondrial anomaly by biochemical, radiological and histopathological explorations. Only the highlighting of the causative gene makes it possible to affirm the diagnosis of mitochondrial disease. Genetic diagnosis allows genetic counseling, in order to support the prognosis, particularly pejorative for early-onset forms.